The option of avoiding serious illnesses in our children: a study on recessive disease carriers

Recessive diseases are hereditary diseases. They are not common but they are often serious and incurable. They have the peculiarity that a person may be a carrier but does have any health issues. It is for this reason that they are called ‘healthy carriers.’
This circumstance makes diagnosis particularly difficult since we can come across families in which there are entire generations without the disease or in which the disease has not previously come to light. As such, until recently, it was impossible or very difficult to know if a person was a carrier or not.
Most of us are healthy carries of some form of recessive disease and, on the whole, this is not an issue as long as our partner is not a carrier of the same disease, in which case there are implications for our children. […]

By |26 de November de 2015|Assisted reproduction, Fertility, Genetics, News, Pregnancy|0 Comments

Are PGD, PGS and CCS all one and the same?

Pre-implantation Genetic Diagnosis (PGD) is a combination of techniques carried out on embryos prior to transfer to the womb with the aim of studying possible chromosomal and/or genetic disorders. Its purpose is to ensure healthy offspring and stop disorders from being passed on to children.
The 21st century has witnessed huge steps being made in terms of embryo abnormality analysis. The range of diagnosis options and the reliability of techniques have converted something which was only a pipe-dream a few years ago into a reality. Nowadays, such techniques are routine and Instituto Bernabeu is a worldwide leader in providing its patients with the latest in embryo genetic diagnosis.
This revolution has led to a number of new testing techniques coming to the fore. Most of them are known by their initials and, in many cases, this has turned PGD into mumbo-gumbo for patients who end up getting them mixed up and confused. We would like to use this forum to shed some light on this sea of initials. […]

Genetics in premature ovarian failure and menopause

Oocytes are the female gametes, cells that, upon being fertilised by the sperm, will produce an embryo. In humans, the number of oocytes that females have throughout their lives is not unlimited; they are born instead with a limited number. These oocytes gradually run out in each menstruation until their supply becomes completely exhausted at menopause.
It is said that women suffer from premature ovarian failure when menstruation ceases because the oocyte supply has become exhausted at an earlier age than the age when the natural decline of ovarian function occurs (at 50, approximately). In cases where oocytes are still produced in women suffering from premature ovarian failure, they do not respond satisfactorily to the hormones responsible for their development and maturation.
Premature ovarian failure may have important consequences for women:

Obviously, in their fertility: These women cannot conceive naturally and require assisted reproduction techniques in order to bear offspring. These patients also have a high risk that their oocytes will not respond to the In Vitro Fertilisation cycle, thus putting the success of the treatment in danger.
On the other hand, the absence of female hormones due to low ovarian activity has serious consequences for health, mainly in cases of cardiovascular disease and osteoporosis.


Instituto Bernabeu: totally committed to quality

Over 30 years’ experience in the field of reproductive medicine has led Instituto Bernabeu in Alicante to achieve leading European levels in quality and commitment. Its focus on providing patients with top care quality, its determination to exceed itself and its constant search for new challenges have led to Instituto Bernabeu receiving the most prestigious of international recognitions, a guarantee of the transparency and reliability of the group located in Alicante, Spain.
“This differentiates us from other centres since we offer continuity and because the certifications which we have cover all departments”, assures Elena García, head of Quality in Instituto Bernabeu. The quality certificates are renewed on an annual basis and, as such, all IB centres have to undergo a new audit every year. “During the financial crisis, many companies have become obsolete because they have not carried out new audits. We, on the other hand, undertook a quality commitment in 2006 and have a team which is specialised in human and technical resources and which is responsible for quality issues”, adds Elena. […]

New diagnosis technique for male sterility and missing genetic material (Y chromosome microdeletions).

We all have 46 chromosomes: 23 of them are inherited from our father and 23 are from our mother. The genetic information for our entire body is stored within these chromosomes. Two of the 46 are sex chromosomes and determine whether we are male (XY) or female (XX). Therefore, the Y chromosome contains all the necessary information for differentiating males from females as well as for sperm production.
The study of Y chromosome microdeletions consists of checking if chromosome Y is complete and, as such, has all the necessary information for satisfactory sperm production or if, on the contrary, small fragments are missing. The loss of such fragments leads to altered spermiogramme which can mean poor sperm production (oligozoospermia) or even no production at all (azoospermia). […]

By |23 de September de 2015|Fertility, Genetics, Reproductive biology, Sterility, Urology|0 Comments

Fertility research: one of a kind treatment for one of a kind patients

Research in the field of assisted reproduction provides us with more and more answers to situations which previously had none. It gives us solutions, options and new ways of overcoming the many difficulties which arise in reproduction.  What’s more, progress in science also helps diagnosis and treatment to be increasingly specific, personalised and individual. In fact, we might even say that the aim is to reach a point where one of a kind treatments are designed for one of a kind patients. […]

Low ovarian reserve, a challenge with optimistic future in Instituto Bernabeu

The social changes in recent years have been highly beneficial to achieving rights and equalities, although it has also led to a significant increase in maternal age. But nature does not understand social change and the biological clock keeps ticking as usual. There are several consequences of this delay on female fertility and it depends on each woman, but it is a reality that as women age, the ovarian reserve diminishes and the egg quality lowers. […]

Ethics and good practice: Let the truth be told

Assisted Human Reproduction is undoubtedly an area with ethical and moral implications. There are common issues that arise with the generation of new embryos when a couple undergoes ART and with transfers of previously frozen embryos. Some of the most frequent issues are: embryo manipulation and genetic diagnosis; the use of donor gametes and the possible coexistence of their legal children with the biological ones in the future; the option of discarding embryos by parents for no other purpose when they don’t wish to donate them to other couples with reproductive problems or for research purposes; the age of women accessing ART, along with a long list of legal, ethical and moral issues pertinent to each assisted reproduction centre. […]

Genetic Health of the Embryo: Science Applied to Life

This is not science fiction, it’s reality. It is reproductive medicine and advanced genetics together to achieve healthy children who are free of diseases. Before, medicine focused on a person’s health. Now thanks to genetics and scientific research we are able to go one step further and take care of the embryo. […]

Genetic incompatibility between the couple, does it exist?

It is estimated that about 20% of reproductive problems are genetic or chromosomal type. That is why today genetic testing is an essential part of the fertility study in couples who come to our clinic looking for descendants.
For the diagnosis of fertility problems there is a set of genetic studies very useful in the assistance of couples with reproductive desire. Tests such as the karyotype in both partners, microdeletion of the Y chromosome in the male or the molecular study of fragile X syndrome in women are usually required tests to determine a possible genetic basis of fertility problems in couples. […]

By |29 de September de 2014|Fertility, Genetics, News|0 Comments